T62M (p.Thr62Met) variant of KCNJ11 (Q14654)
T62M (p.Thr62Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T62M (p.Thr62Met) variant details
- p.Thr62Met
- rs1057518775
- ClinGen CA379775836
- ClinVar RCV000500297
- ClinVar RCV002227172
- Conflicting interpretations
- Maturity-onset diabetes of the young; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.95
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.11
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not specified; not provide)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)